Deciphering the mutational signature of congenital limb malformations

Deciphering the mutational signature of congenital limb malformations

Congenital limb malformations (CLMs) affect 1 in 500 live births. However, the value of exome sequencing (ES) for CLM is lacking. The purpose of this study was to decipher the mutational signature of CLM on an exome level. We enrolled a cohort of 66 unrelated probands (including 47 families) with CL...

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Bibliographic Details
Main Authors: Liying Sun, Yingzhao Huang, Sen Zhao, Junhui Zhao, Zihui Yan, Yang Guo, Mao Lin, Wenyao Zhong, Yuehan Yin, Zefu Chen, Nan Zhang, Yuanqiang Zhang, Zongxuan Zhao, Qingyang Li, Lianlei Wang, Xiying Dong, Yaqi Li, Xiaoxin Li, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Wen Tian, Nan Wu
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
mutational signature
congenital limb malformation
CLM
exome sequencing
ES
molecular diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253121001062

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http://www.sciencedirect.com/science/article/pii/S2162253121001062

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